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January 1993

Cardiac Anomalies in Ataxia-Telangiectasia

Author Affiliations

Istituto di Clinica Pediatrica
Istituto di Clinica Medica
Dipartimento di Medicina Sporimentale Policlinico Umberto I Viale Regina Elena 324 00191 Rome, Italy

Am J Dis Child. 1993;147(1):20-21. doi:10.1001/archpedi.1993.02160250022008

Sir.—Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of childhood1,2 in which the homozygotes have progressive neurologic disability and oculocutaneous telangiectasias. Other manifestations include increased cancer incidence, thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficiencies, elevated serum level of α-fetoprotein, premature aging, and endocrine disorders such as insulinresistant diabetes mellitus. In vitro AT cells are characterized by hypersensitivity to ionizing radiation and increased rate of spontaneous and induced chromosomal breakage, together with nonrandom chromosomal rearrangements. A DNA-processing or repair protein is the suspected common denominator in this abnormality.3

Patients generally died in the second decade of life from sinopulmonary infections or lymphoreticular neoplasias. Heterozygous carriers of an AT gene, estimated to comprise about 1% of the general population, have an increased risk of cancer and ischemic heart disease.4 To our knowledge, the cardiovascular anomalies have not been investigated in AT homozygotes to date. We report